Canonical Allele Identifier: CA2650610462

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658654-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658654T>G , CM000663.2:g.222658654T>G	GRCh38
NC_000001.10:g.222831996T>G , CM000663.1:g.222831996T>G	GRCh37
NC_000001.9:g.220898619T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4608-68T>G MANE Select	ENSP00000340900.5:n.4608-68T>G
ENST00000340535.11:c.1242-68T>G	ENSP00000345866.7:n.1242-68T>G
ENST00000344507.1:c.1475-6945T>G	ENSP00000341348.1:n.1475-6945T>G
ENST00000344922.9:c.4608-68T>G	ENSP00000340900.5:n.4608-68T>G
ENST00000476400.1:n.13T>G
NM_001300867.1:c.1242-68T>G	NP_001287796.1:n.1242-68T>G
NM_198551.3:c.4608-68T>G	NP_940953.2:n.4608-68T>G
XM_005273121.3:c.4608-68T>G	XP_005273178.1:n.4608-68T>G
XM_006711304.2:c.4431-68T>G	XP_006711367.1:n.4431-68T>G
XM_011509513.1:c.*678T>G	XP_011507815.1:n.*678T>G
NM_001324062.1:c.4608-68T>G	NP_001310991.1:n.4608-68T>G
NM_001324063.1:c.4431-68T>G	NP_001310992.1:n.4431-68T>G
NM_001324064.1:c.4116-68T>G	NP_001310993.1:n.4116-68T>G
NM_001324065.1:c.1242-68T>G	NP_001310994.1:n.1242-68T>G
XM_006711304.4:c.4431-68T>G	XP_006711367.3:n.4431-68T>G
XM_011509513.3:c.*678T>G	XP_011507815.3:n.*678T>G
XM_017001243.2:c.4116-68T>G	XP_016856732.1:n.4116-68T>G
NM_198551.4:c.4608-68T>G MANE Select	NP_940953.2:n.4608-68T>G
NM_001300867.2:c.1242-68T>G	NP_001287796.1:n.1242-68T>G
NM_001324062.2:c.4608-68T>G	NP_001310991.1:n.4608-68T>G
NM_001324063.2:c.4431-68T>G	NP_001310992.1:n.4431-68T>G
NM_001324064.2:c.4116-68T>G	NP_001310993.1:n.4116-68T>G
NM_001324065.2:c.1242-68T>G	NP_001310994.1:n.1242-68T>G